Center of Investigation of Endocrinology and Clinical Nutrition, Medicine School and Unit of Investigation, Hospital Universitario Rio Hortega, University of Valladolid, Valladolid, Spain.
Eur Rev Med Pharmacol Sci. 2011 May;15(5):463-8.
The etiology of common obesity is complex, because many genetic, environmental and metabolic factors might act. Alterations of the normal leptin receptor gene be involved in the development of obesity. The polymorphism on codon 656 produces a change in charge, making this change a possibility to be functional.
The aim of our study was to investigate the relationship between metabolic syndrome and Lys656Asn polymorphism in obese patients.
A population of 714 obese patients (body mass index > 30) was analyzed in cross-sectional survey. A bioimpedance, blood pressure, a serial assessment of nutritional intake with 3 days written food records and biochemical analysis were performed.
Four hundred and seventy eight patients (66.9%) had the genotype Lys656/Lys 656 (wild group), whereas 236 (33.1%) had either the genotype Lys656/Asn656 (212 patients, 29.7%) or the genotype Asn656/Asn656 (24 patients, 3.4%) (mutant group). Prevalence of metabolic syndrome (MS) with ATP III definition was 49.4% (353 patients; 35.1% males and 64.9% females) and 50.6% patients without MS (n = 361; 25.2% males and 75.8% females). Prevalence of leptin receptor (LEPR) genotypes was similar in patients with metabolic syndrome (65.5% wild genotype and 34.5% mutant genotype) and without metabolic syndrome (68.3% wild genotype and 31.7% mutant genotype). No differences in anthropometric and biochemical parameters were detected between genotypes in the same group of metabolic syndrome.
The finding of our study is the lack of association of the Lys656/Asn656 and Asn656/ Asn656 genotypes with metabolic syndrome.
普通肥胖的病因复杂，因为许多遗传、环境和代谢因素都可能起作用。瘦素受体基因的改变可能与肥胖的发生有关。第 656 位密码子的多态性导致电荷发生变化，这使得这种变化有可能具有功能。
本研究旨在探讨肥胖患者代谢综合征与瘦素受体基因 656 位密码子 Lys656Asn 多态性的关系。
对 714 例肥胖患者（体重指数＞30）进行横断面调查。进行生物电阻抗、血压、3 天书面食物记录的连续营养摄入评估以及生化分析。
478 例患者（66.9%）基因型为 Lys656/Lys 656（野生型），236 例（33.1%）患者基因型为 Lys656/Asn656（212 例，29.7%）或 Asn656/Asn656（24 例，3.4%）（突变型）。根据 ATP III 定义，代谢综合征（MS）的患病率为 49.4%（353 例；男性占 35.1%，女性占 64.9%），无 MS 的患者占 50.6%（n=361；男性占 25.2%，女性占 75.8%）。代谢综合征患者瘦素受体（LEPR）基因型的患病率与无代谢综合征患者相似（野生基因型 65.5%，突变基因型 34.5%）。在代谢综合征相同组中，基因型之间的人体测量和生化参数无差异。
本研究发现 Lys656/Asn656 和 Asn656/Asn656 基因型与代谢综合征无关。
